Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Homeobox protein Nkx-3.2

Gene

NKX3-2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. PLays a role in distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type epithelium. In concert with GSC, defines the structural components of the middle ear; required for tympanic ring and gonium development and in the regulation of the width of the malleus (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi206 – 265HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-8939902 Regulation of RUNX2 expression and activity

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein Nkx-3.2
Alternative name(s):
Bagpipe homeobox protein homolog 1
Homeobox protein NK-3 homolog B
Gene namesi
Name:NKX3-2
Synonyms:BAPX1, NKX3B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000109705.7
HGNCiHGNC:951 NKX3-2
MIMi602183 gene
neXtProtiNX_P78367

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral bodies, the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones, and numerous pseudoepiphyses of the short tubular bones in hands and feet.
See also OMIM:613330

Keywords - Diseasei

Dwarfism

Organism-specific databases

DisGeNETi579
MalaCardsiNKX3-2
MIMi613330 phenotype
OpenTargetsiENSG00000109705
Orphaneti228387 Spondylo-megaepiphyseal-metaphyseal dysplasia
PharmGKBiPA162397617

Polymorphism and mutation databases

BioMutaiNKX3-2
DMDMi6016210

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000489471 – 333Homeobox protein Nkx-3.2Add BLAST333

Proteomic databases

EPDiP78367
PaxDbiP78367
PeptideAtlasiP78367
PRIDEiP78367

PTM databases

iPTMnetiP78367
PhosphoSitePlusiP78367

Expressioni

Tissue specificityi

Expressed at highest levels in cartilage, bone (osteosarcoma) and gut (small intestine and colon), whereas moderate expression is seen in trachea and brain. Expressed in visceral mesoderm and embryonic skeleton.1 Publication

Gene expression databases

BgeeiENSG00000109705
CleanExiHS_NKX3-2
GenevisibleiP78367 HS

Organism-specific databases

HPAiHPA027564

Interactioni

Protein-protein interaction databases

BioGridi107055, 6 interactors
IntActiP78367, 1 interactor
STRINGi9606.ENSP00000371875

Structurei

3D structure databases

ProteinModelPortaliP78367
SMRiP78367
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi180 – 188Poly-Gly9
Compositional biasi194 – 198Poly-Glu5
Compositional biasi327 – 330Poly-Ala4

Sequence similaritiesi

Belongs to the NK-3 homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0842 Eukaryota
ENOG410XR21 LUCA
GeneTreeiENSGT00910000144003
HOGENOMiHOG000231923
HOVERGENiHBG006689
InParanoidiP78367
KOiK09995
OMAiESPGGWD
OrthoDBiEOG091G0V1X
PhylomeDBiP78367
TreeFamiTF351204

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PRINTSiPR00024 HOMEOBOX
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

Sequencei

Sequence statusi: Complete.

P78367-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAVRGANTLT SFSIQAILNK KEERGGLAAP EGRPAPGGTA ASVAAAPAVC
60 70 80 90 100
CWRLFGERDA GALGGAEDSL LASPAGTRTA AGRTAESPEG WDSDSALSEE
110 120 130 140 150
NESRRRCADA RGASGAGLAG GSLSLGQPVC ELAASKDLEE EAAGRSDSEM
160 170 180 190 200
SASVSGDRSP RTEDDGVGPR GAHVSALCSG AGGGGGSGPA GVAEEEEEPA
210 220 230 240 250
APKPRKKRSR AAFSHAQVFE LERRFNHQRY LSGPERADLA ASLKLTETQV
260 270 280 290 300
KIWFQNRRYK TKRRQMAADL LASAPAAKKV AVKVLVRDDQ RQYLPGEVLR
310 320 330
PPSLLPLQPS YYYPYYCLPG WALSTCAAAA GTQ
Length:333
Mass (Da):34,814
Last modified:July 15, 1999 - v2
Checksum:i8C406E188D27780B
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF005260 Genomic DNA Translation: AAC39536.1
AF009801 mRNA Translation: AAB82783.1
AF009802 Genomic DNA Translation: AAB82784.1
BC111966 mRNA Translation: AAI11967.1
U89845 Genomic DNA Translation: AAB49696.1
CCDSiCCDS3410.1
RefSeqiNP_001180.1, NM_001189.3
UniGeneiHs.590927

Genome annotation databases

EnsembliENST00000382438; ENSP00000371875; ENSG00000109705
GeneIDi579
KEGGihsa:579
UCSCiuc003gmx.3 human

Similar proteinsi

Entry informationi

Entry nameiNKX32_HUMAN
AccessioniPrimary (citable) accession number: P78367
Secondary accession number(s): Q2M2I7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 15, 1999
Last modified: March 28, 2018
This is version 142 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health